Detail Information of AutCNV0000729
1. Sample AND Method Top
Users can click the chromosome coordinates of "Region" label to view information in UCSC Genome Browser.
| Ancestry | ADI-R | ADOS | Diagnosis | Family | Individual | Reference | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | |||||
| Caucasion |  | | ASD | - | - | - | - | 223 | - | 223 | Bremer, 2011 |
| Population: | - | ||||||||||
| Platform: | Agilent 244K oligonucleotide CGH microarray, 33K and 38K BAC arrays | ||||||||||
| Method: | aCGH | ||||||||||
| Marker: | - | ||||||||||
| Band: | 3p25.3-pter | ||||||||||
| Evidences: | CNVs Only Present In Patients; | ||||||||||
| Region: | Chr3: 60000-10093676 (hg18: Chr3: 1-10068676) | ||||||||||
| Gain/Loss: | gain | ||||||||||
2. Related Syndromic Genes TopAbbreviations: AD, autosomal dominant; AR, autosomal recessive; ASD, autism spectrum disorder; ID, intellectual disability; XL, X linked.
| Gene ID | Gene Symbol | Inheritance | Evidence Level |
|---|---|---|---|
| No data! | |||
3. Related Non-syndromic Genes Top| Gene ID | Gene Symbol | Evidence Score | Total Score | |||||
|---|---|---|---|---|---|---|---|---|
| Low-Scale Association | GWAS | Low-Scale Single Gene | Expression | CNV | Linkage | |||
| AutG5021 | OXTR | 3 | 1 | 2 | 1 | 0 | 1 | 33 |
| AutG3708 | ITPR1 | 0 | 0 | 0 | 2 | 0 | 0 | 20 |
| AutG152330 | CNTN4 | 1 | 1 | 1 | 0 | 1 | 0 | 18 |
| AutG27255 | CNTN6 | 1 | 0 | 0 | 0 | 1 | 0 | 4 |
| AutG9695 | EDEM1 | 0 | 1 | 0 | 0 | 0 | 0 | 4 |
| AutG10474 | TADA3 | 0 | 0 | 0 | 1 | 0 | 1 | 3 |
| AutG7862 | BRPF1 | 0 | 0 | 0 | 1 | 0 | 1 | 3 |